example_run
1. del(1)(q32.2q32.3): deletion on Chr1: 207,385,675-211,552,235 (q32.2 - q32.3) (7, 'deletion', ['1.1.wt(2+).1+.3+'])
| SV | rationale | gene name | gene omim |
|---|---|---|---|
| 1 | CN-1 | IRF6 | 607199 |
| 1 | CN-1 | KCNH1 | 603305 |
| seg index | chr | start | end | size |
|---|---|---|---|---|
| 1 | Chr1 | 14,454 | 207,385,674 | 207,371,221 |
| 2 | Chr1 | 207,385,675 | 211,552,235 | 4,166,561 |
| 3 | Chr1 | 211,552,236 | 248,943,332 | 37,391,097 |
mt_haps
0: ['1+', '2+', '3+']
1: ['1+', '3+']
wt_haps
['1+', '2+', '3+']
['1+', '2+', '3+']
alignments
['1+', '2+', '3+'] ['1+', '2+', '3+']
['1+', '-', '3+'] ['1+', '2+', '3+']
1. del(2)(q11.1q37.3): deletion on Chr2: 94,052,823-241,869,133 (q11.1 - q37.3) (8, 'deletion', ['3.1.wt(7+,8+,9+).6+.10+'])
| SV | rationale | gene name | gene omim |
|---|---|---|---|
| 1 | CN-1 | ADRA2B | 104260 |
| 1 | CN-1 | NCAPH | 602332 |
| 1 | CN-1 | INPP4A | 600916 |
| 1 | CN-1 | COA5 | 613920 |
| 1 | CN-1 | LIPT1 | 610284 |
| 1 | CN-1 | AFF3 | 601464 |
| 1 | CN-1 | POU3F3 | 602480 |
| 1 | CN-1 | SLC5A7 | 608761 |
| 1 | CN-1 | RANBP2 | 601181 |
| 1 | CN-1 | EDAR | 604095 |
| 1 | CN-1 | NPHP1 | 607100 |
| 1 | CN-1 | BUB1 | 602452 |
| 1 | CN-1 | ANAPC1 | 608473 |
| 1 | CN-1 | CKAP2L | 616174 |
| 1 | CN-1 | PAX8 | 167415 |
| 1 | CN-1 | GLI2 | 165230 |
| 1 | CN-1 | BIN1 | 601248 |
| 1 | CN-1 | ERCC3 | 133510 |
| 1 | CN-1 | SMPD4 | 610457 |
| 1 | CN-1 | CCDC115 | 613734 |
| 1 | CN-1 | CFC1 | 605194 |
| 1 | CN-1 | TMEM163 | 618978 |
| 1 | CN-1 | RAB3GAP1 | 602536 |
| 1 | CN-1 | DARS1 | 603084 |
| 1 | CN-1 | ZEB2 | 605802 |
| 1 | CN-1 | ORC4 | 603056 |
| 1 | CN-1 | MBD5 | 611472 |
| 1 | CN-1 | KIF5C | 604593 |
| 1 | CN-1 | MMADHC | 611935 |
| 1 | CN-1 | NEB | 161650 |
| 1 | CN-1 | CACNB4 | 601949 |
| 1 | CN-1 | NR4A2 | 601828 |
| 1 | CN-1 | ACVR1 | 102576 |
| 1 | CN-1 | BAZ2B | 605683 |
| 1 | CN-1 | TBR1 | 604616 |
| 1 | CN-1 | IFIH1 | 606951 |
| 1 | CN-1 | SCN3A | 182391 |
| 1 | CN-1 | SCN2A | 182390 |
| 1 | CN-1 | SCN1A | 182389 |
| 1 | CN-1 | ABCB11 | 603201 |
| 1 | CN-1 | LRP2 | 600073 |
| 1 | CN-1 | BBS5 | 603650 |
| 1 | CN-1 | METTL5 | 618628 |
| 1 | CN-1 | GAD1 | 605363 |
| 1 | CN-1 | DCAF17 | 612515 |
| 1 | CN-1 | DYNC1I2 | 603331 |
| 1 | CN-1 | ITGA6 | 147556 |
| 1 | CN-1 | CHRNA1 | 100690 |
| 1 | CN-1 | LNPK | 610236 |
| 1 | CN-1 | HOXD13 | 142989 |
| 1 | CN-1 | NFE2L2 | 600492 |
| 1 | CN-1 | AGPS | 603051 |
| 1 | CN-1 | TTN | 188840 |
| 1 | CN-1 | NCKAP1 | 604891 |
| 1 | CN-1 | HIBCH | 610690 |
| 1 | CN-1 | HECW2 | 617245 |
| 1 | CN-1 | PGAP1 | 611655 |
| 1 | CN-1 | HSPD1 | 118190 |
| 1 | CN-1 | SATB2 | 608148 |
| 1 | CN-1 | NDUFB3 | 603839 |
| 1 | CN-1 | TMEM237 | 614423 |
| 1 | CN-1 | ALS2 | 606352 |
| 1 | CN-1 | SUMO1 | 601912 |
| 1 | CN-1 | NDUFS1 | 157655 |
| 1 | CN-1 | EEF1B2 | 600655 |
| 1 | CN-1 | KLF7 | 604865 |
| 1 | CN-1 | FZD5 | 601723 |
| 1 | CN-1 | CRYGD | 123690 |
| 1 | CN-1 | CRYGC | 123680 |
| 1 | CN-1 | UNC80 | 612636 |
| 1 | CN-1 | MYL1 | 160780 |
| 1 | CN-1 | CPS1 | 608307 |
| 1 | CN-1 | ATIC | 601731 |
| 1 | CN-1 | FN1 | 135600 |
| 1 | CN-1 | PECR | 605843 |
| 1 | CN-1 | SMARCAL1 | 606622 |
| 1 | CN-1 | ZNF142 | 604083 |
| 1 | CN-1 | BCS1L | 603647 |
| 1 | CN-1 | CYP27A1 | 606530 |
| 1 | CN-1 | IHH | 600726 |
| 1 | CN-1 | ABCB6 | 605452 |
| 1 | CN-1 | SPEG | 615950 |
| 1 | CN-1 | GMPPA | 615495 |
| 1 | CN-1 | OBSL1 | 610991 |
| 1 | CN-1 | PAX3 | 606597 |
| 1 | CN-1 | CUL3 | 603136 |
| 1 | CN-1 | COL4A4 | 120131 |
| 1 | CN-1 | COL4A3 | 120070 |
| 1 | CN-1 | MFF | 614785 |
| 1 | CN-1 | TM4SF20 | 615404 |
| 1 | CN-1 | SLC19A3 | 606152 |
| 1 | CN-1 | DAW1 | 620279 |
| 1 | CN-1 | TRIP12 | 604506 |
| 1 | CN-1 | ARMC9 | 617612 |
| 1 | CN-1 | DIS3L2 | 614184 |
| 1 | CN-1 | ECEL1 | 605896 |
| 1 | CN-1 | PRSS56 | 613858 |
| 1 | CN-1 | CHRNG | 100730 |
| 1 | CN-1 | UGT1A1 | 191740 |
| 1 | CN-1 | COL6A3 | 120250 |
| 1 | CN-1 | TWIST2 | 607556 |
| 1 | CN-1 | HDAC4 | 605314 |
| 1 | CN-1 | NDUFA10 | 603835 |
| 1 | CN-1 | CAPN10 | 605286 |
| 1 | CN-1 | KIF1A | 601255 |
| 1 | CN-1 | AGXT | 604285 |
| 1 | CN-1 | D2HGDH | 609186 |
| seg index | chr | start | end | size |
|---|---|---|---|---|
| 4 | Chr2 | 15,925 | 87,052,278 | 87,036,354 |
| 5 | Chr2 | 87,052,279 | 87,717,319 | 665,041 |
| 6 | Chr2 | 87,717,320 | 94,052,822 | 6,335,503 |
| 7 | Chr2 | 94,052,823 | 187,658,781 | 93,605,959 |
| 8 | Chr2 | 187,663,333 | 188,605,824 | 942,492 |
| 9 | Chr2 | 188,608,772 | 241,869,133 | 53,260,362 |
| 10 | Chr2 | 241,869,134 | 242,181,356 | 312,223 |
mt_haps
2: ['4+', '5+', '6+', '7+', '8+', '9+', '10+']
3: ['4+', '5+', '6+', '10+']
wt_haps
['4+', '5+', '6+', '7+', '8+', '9+', '10+']
['4+', '5+', '6+', '7+', '8+', '9+', '10+']
alignments
['4+', '5+', '6+', '7+', '8+', '9+', '10+'] ['4+', '5+', '6+', '7+', '8+', '9+', '10+']
['4+', '5+', '6+', '-', '-', '-', '10+'] ['4+', '5+', '6+', '7+', '8+', '9+', '10+']
1. inv(3)(p24.1p22.3): inversion on Chr3: 29,280,414-32,379,198 (p24.1 - p22.3) (1, 'inversion', ['5.1,2.(12+),wt(12+),mt(12-).11+.13+'])
| seg index | chr | start | end | size |
|---|---|---|---|---|
| 11 | Chr3 | 0 | 29,280,413 | 29,280,414 |
| 12 | Chr3 | 29,280,414 | 32,379,198 | 3,098,785 |
| 13 | Chr3 | 32,379,199 | 198,230,596 | 165,851,398 |
mt_haps
4: ['11+', '12+', '13+']
5: ['11+', '12-', '13+']
wt_haps
['11+', '12+', '13+']
['11+', '12+', '13+']
alignments
['11+', '12+', '13+'] ['11+', '12+', '13+']
['11+', '-', '12-', '13+'] ['11+', '12+', '-', '13+']
1. del(5)(p14.1p13.3): deletion on Chr5: 25,410,912-32,718,732 (p14.1 - p13.3) (9, 'deletion', ['9.1.wt(16+).15+.17+'])
| SV | rationale | gene name | gene omim |
|---|---|---|---|
| 1 | breakpoint proximal | NPR3 | 108962 |
| 1 | CN-1 | NPR3 | 108962 |
| seg index | chr | start | end | size |
|---|---|---|---|---|
| 15 | Chr5 | 19,315 | 25,410,911 | 25,391,597 |
| 16 | Chr5 | 25,410,912 | 32,718,732 | 7,307,821 |
| 17 | Chr5 | 32,730,622 | 181,472,713 | 148,742,092 |
mt_haps
8: ['15+', '16+', '17+']
9: ['15+', '17+']
wt_haps
['15+', '16+', '17+']
['15+', '16+', '17+']
alignments
['15+', '16+', '17+'] ['15+', '16+', '17+']
['15+', '-', '17+'] ['15+', '16+', '17+']
1. ins-t(6;6)(p25.3;q26q26): balanced non-reciprocal translocation of Chr6: 163,785,222-163,876,868 (q26 - q26) into Chr6: 76217(p25.3) (0, 'balanced_translocation_unassociated', ['10.1.mt(19+).18+.19+', '11.1.wt(19+).18+.21-'])
2. ins(6)(p25.3q27q26): duplicated-insertion of Chr6: 170,739,896-163,876,869 (q27 - q26) into Chr6: 76,217 (p25.3) (12, 'insertion', ['11.2.mt(21-,20-).18+.20+'])
3. del(6)(q27): deletion on Chr6: 170,070,789-170,739,896 (q27 - q27) (10, 'deletion', ['11.4.wt(21+).20+.q-ter'])
| SV | rationale | gene name | gene omim |
|---|---|---|---|
| 2 | CN+1 | PDE10A | 610652 |
| 2 | CN+1 | RNASET2 | 612944 |
| 2 | CN+1 | SMOC2 | 607223 |
| 2 | CN+1 | ERMARD | 615532 |
| seg index | chr | start | end | size |
|---|---|---|---|---|
| 18 | Chr6 | 76,217 | 163,785,221 | 163,709,005 |
| 19 | Chr6 | 163,785,222 | 163,876,868 | 91,647 |
| 20 | Chr6 | 163,876,869 | 170,070,788 | 6,193,920 |
| 21 | Chr6 | 170,070,789 | 170,739,896 | 669,108 |
mt_haps
10: ['18+', '19+', '19+', '20+', '21+']
11: ['18+', '21-', '20-', '20+']
wt_haps
['18+', '19+', '20+', '21+']
['18+', '19+', '20+', '21+']
alignments
['18+', '19+', '19+', '20+', '21+'] ['18+', '-', '19+', '20+', '21+']
['18+', '-', '21-', '20-', '20+', '-'] ['18+', '19+', '-', '-', '20+', '21+']
1. dup(8)(q24.21q24.23): tandem duplication on Chr8: 128,351,262-137,208,297 (q24.21 - q24.23) (5, 'tandem_duplication', ['15.1.mt(25+).23+.24+'])
| SV | rationale | gene name | gene omim |
|---|---|---|---|
| 1 | CN+1 | KCNQ3 | 602232 |
| 1 | CN+1 | DNAAF11 | 614930 |
| seg index | chr | start | end | size |
|---|---|---|---|---|
| 23 | Chr8 | 61,806 | 128,287,039 | 128,225,234 |
| 24 | Chr8 | 128,287,040 | 128,351,261 | 64,222 |
| 25 | Chr8 | 128,351,262 | 137,208,297 | 8,857,036 |
| 26 | Chr8 | 137,211,812 | 145,076,124 | 7,864,313 |
mt_haps
14: ['23+', '24+', '25+', '26+']
15: ['23+', '25+', '24+', '25+', '26+']
wt_haps
['23+', '24+', '25+', '26+']
['23+', '24+', '25+', '26+']
alignments
['23+', '24+', '25+', '26+'] ['23+', '24+', '25+', '26+']
['23+', '25+', '24+', '25+', '26+'] ['23+', '-', '24+', '25+', '26+']
1. inv(11)(q23.3): inversion on Chr11: 116,012,930-120,316,431 (q23.3 - q23.3) (2, 'inversion', ['21.1,2.(32+),wt(32+),mt(32-).31+.33+'])
| seg index | chr | start | end | size |
|---|---|---|---|---|
| 31 | Chr11 | 0 | 116,012,929 | 116,012,930 |
| 32 | Chr11 | 116,012,930 | 120,316,431 | 4,303,502 |
| 33 | Chr11 | 120,316,432 | 135,069,565 | 14,753,134 |
mt_haps
20: ['31+', '32+', '33+']
21: ['31+', '32-', '33+']
wt_haps
['31+', '32+', '33+']
['31+', '32+', '33+']
alignments
['31+', '32+', '33+'] ['31+', '32+', '33+']
['31+', '-', '32-', '33+'] ['31+', '32+', '-', '33+']
1. inv(13)(q33.2q34): inversion on Chr13: 105,337,629-114,352,102 (q33.2 - q34) (3, 'inversion', ['25.1,2.(36+),wt(36+),mt(36-).35+.q-ter'])
| SV | rationale | gene name | gene omim |
|---|---|---|---|
| 1 | breakpoint proximal | CHAMP1 | 616327 |
| seg index | chr | start | end | size |
|---|---|---|---|---|
| 35 | Chr13 | 0 | 105,337,628 | 105,337,629 |
| 36 | Chr13 | 105,337,629 | 114,352,102 | 9,014,474 |
mt_haps
24: ['35+', '36+']
25: ['35+', '36-']
wt_haps
['35+', '36+']
['35+', '36+']
alignments
['35+', '36+'] ['35+', '36+']
['35+', '-', '36-'] ['35+', '36+', '-']
1. inv(15)(q13.2q13.3): inversion on Chr15: 30,767,337-31,638,353 (q13.2 - q13.3) (4, 'inversion', ['29.1,2.(39+),wt(39+),mt(39-).38+.40+'])
2. del(15)(q14q15.2): deletion on Chr15: 35,542,079-43,266,426 (q14 - q15.2) (11, 'deletion', ['29.4.wt(41+).40+.42+'])
3. dup(15)(q26.3): tandem duplication on Chr15: 98,842,474-101,744,858 (q26.3 - q26.3) (6, 'tandem_duplication', ['29.6.mt(43+).42+.43+'])
| SV | rationale | gene name | gene omim |
|---|---|---|---|
| 1 | breakpoint proximal | OTUD7A | 612024 |
| 2 | breakpoint proximal | OTUD7A | 612024 |
| 3 | breakpoint proximal | IGF1R | 147370 |
| 2 | CN-1 | MEIS2 | 601740 |
| 2 | CN-1 | SPRED1 | 609291 |
| 2 | CN-1 | BUB1B | 602860 |
| 2 | CN-1 | IVD | 607036 |
| 2 | CN-1 | CHST14 | 608429 |
| 2 | CN-1 | CCDC32 | 618941 |
| 2 | CN-1 | RAD51 | 179617 |
| 2 | CN-1 | ZFYVE19 | 619635 |
| 2 | CN-1 | DLL4 | 605185 |
| 2 | CN-1 | UBR1 | 605981 |
| 3 | CN+1 | IGF1R | 147370 |
| 3 | CN+1 | LINS1 | 610350 |
| 3 | CN+1 | ALDH1A3 | 600463 |
| 3 | CN+1 | CHSY1 | 608183 |
| seg index | chr | start | end | size |
|---|---|---|---|---|
| 38 | Chr15 | 17,050,954 | 30,767,336 | 13,716,383 |
| 39 | Chr15 | 30,767,337 | 31,638,353 | 871,017 |
| 40 | Chr15 | 31,638,354 | 35,531,083 | 3,892,730 |
| 41 | Chr15 | 35,542,079 | 43,266,426 | 7,724,348 |
| 42 | Chr15 | 43,266,427 | 98,842,473 | 55,576,047 |
| 43 | Chr15 | 98,842,474 | 101,744,858 | 2,902,385 |
| 44 | Chr15 | 101,744,859 | 101,976,508 | 231,650 |
mt_haps
28: ['38+', '39+', '40+', '41+', '42+', '43+', '44+']
29: ['38+', '39-', '40+', '42+', '43+', '43+', '44+']
wt_haps
['38+', '39+', '40+', '41+', '42+', '43+', '44+']
['38+', '39+', '40+', '41+', '42+', '43+', '44+']
alignments
['38+', '39+', '40+', '41+', '42+', '43+', '44+'] ['38+', '39+', '40+', '41+', '42+', '43+', '44+']
['38+', '-', '39-', '40+', '-', '42+', '43+', '43+', '44+'] ['38+', '39+', '-', '40+', '41+', '42+', '-', '43+', '44+']
1. t(1;9)(q24.3;q21.31): balanced translocation between Chr1 and Chr9, between segments Chr1: 172,726,872-248,943,333 (q24.3 - q44) and Chr9: 79,166,098-138,334,463 (q21.31 - q34.3) (1, 'balanced_translocation_associated<0>', ['0.2.mt(33+).2+.q-ter', '2.1.wt(33+).32+.2+'])
2. ins-t(1;1)(p36.33;q24.1q24.3): balanced non-reciprocal translocation of Chr1: 166,182,767-172,726,871 (q24.1 - q24.3) into Chr1: 0(p36.33) (2, 'balanced_translocation_unassociated', ['2.2a.mt(2+).32+.3+', '3.1.wt(2+).1+.3+'])
| seg index | chr | start | end | size |
|---|---|---|---|---|
| 1 | Chr1 | 0 | 166,182,766 | 166,182,767 |
| 2 | Chr1 | 166,182,767 | 172,726,871 | 6,544,105 |
| 3 | Chr1 | 172,726,872 | 248,943,333 | 76,216,462 |
| 28 | Chr9 | 14,567 | 61,552,686 | 61,538,120 |
| 29 | Chr9 | 61,552,687 | 65,588,579 | 4,035,893 |
| 30 | Chr9 | 65,588,580 | 66,255,740 | 667,161 |
| 31 | Chr9 | 66,255,741 | 73,445,097 | 7,189,357 |
| 32 | Chr9 | 73,445,098 | 79,166,097 | 5,721,000 |
| 33 | Chr9 | 79,166,098 | 138,334,463 | 59,168,366 |
mt_haps
0: ['1+', '2+', '33+']
3: ['1+', '3+']
1: ['28+', '29+', '30+', '31+', '32+', '33+']
2: ['28+', '29+', '30+', '31+', '32+', '2+', '3+']
wt_haps
['1+', '2+', '3+']
['1+', '2+', '3+']
['28+', '29+', '30+', '31+', '32+', '33+']
['28+', '29+', '30+', '31+', '32+', '33+']
alignments
['1+', '2+', '-', '33+'] ['1+', '2+', '3+', '-']
['1+', '-', '3+'] ['1+', '2+', '3+']
['28+', '29+', '30+', '31+', '32+', '33+'] ['28+', '29+', '30+', '31+', '32+', '33+']
['28+', '29+', '30+', '31+', '32+', '-', '2+', '3+'] ['28+', '29+', '30+', '31+', '32+', '33+', '-', '-']
1. ins-t(2;2)(q32.1;q32.2q32.2): balanced non-reciprocal translocation of Chr2: 188,861,310-188,939,570 (q32.2 - q32.2) into Chr2: 185128476(q32.1) (3, 'balanced_translocation_unassociated', ['4.1.mt(10+).9+.10+', '5.4.wt(10+).9+.9-'])
2. inv(2)(p16.3p16.2): inversion on Chr2: 48,699,768-54,118,053 (p16.3 - p16.2) (6, 'inversion', ['5.1,2.(5+),wt(5+),mt(5-).4+.6+'])
3. ins(2)(q32.1q32.2q32.1): duplicated-insertion of Chr2: 188,861,309-185,128,476 (q32.2 - q32.1) into Chr2: 185,128,476 (q32.1) (17, 'insertion', ['5.5.mt(9-).9+.11+'])
| seg index | chr | start | end | size |
|---|---|---|---|---|
| 4 | Chr2 | 15,925 | 48,699,767 | 48,683,843 |
| 5 | Chr2 | 48,699,768 | 54,118,053 | 5,418,286 |
| 6 | Chr2 | 54,118,054 | 87,052,278 | 32,934,225 |
| 7 | Chr2 | 87,052,279 | 87,717,319 | 665,041 |
| 8 | Chr2 | 87,717,320 | 185,119,300 | 97,401,981 |
| 9 | Chr2 | 185,128,476 | 188,861,309 | 3,732,834 |
| 10 | Chr2 | 188,861,310 | 188,939,570 | 78,261 |
| 11 | Chr2 | 188,939,571 | 242,181,356 | 53,241,786 |
mt_haps
4: ['4+', '5+', '6+', '7+', '8+', '9+', '10+', '10+', '11+']
5: ['4+', '5-', '6+', '7+', '8+', '9+', '9-', '11+']
wt_haps
['4+', '5+', '6+', '7+', '8+', '9+', '10+', '11+']
['4+', '5+', '6+', '7+', '8+', '9+', '10+', '11+']
alignments
['4+', '5+', '6+', '7+', '8+', '9+', '10+', '10+', '11+'] ['4+', '5+', '6+', '7+', '8+', '9+', '-', '10+', '11+']
['4+', '-', '5-', '6+', '7+', '8+', '9+', '-', '9-', '11+'] ['4+', '5+', '-', '6+', '7+', '8+', '9+', '10+', '-', '11+']
1. right-dup-inv(5)(q14.1q14.3): right duplication inversion on Chr5: 80,543,566-89,331,805 (q14.1 - q14.3) (7, 'right_duplication_inversion', ['11.1.mt(16-).16+.17+'])
2. dup(5)(q22.3q23.1): tandem duplication on Chr5: 115,213,463-119,187,471 (q22.3 - q23.1) (10, 'tandem_duplication', ['11.3.mt(19+).18+.19+'])
| SV | rationale | gene name | gene omim |
|---|---|---|---|
| 1 | CN+1 | DHFR | 126060 |
| 1 | CN+1 | RPS23 | 603683 |
| 1 | CN+1 | XRCC4 | 194363 |
| 1 | CN+1 | RASA1 | 139150 |
| 1 | CN+1 | MEF2C | 600662 |
| 2 | CN+1 | FEM1C | 608767 |
| seg index | chr | start | end | size |
|---|---|---|---|---|
| 14 | Chr5 | 19,315 | 80,425,291 | 80,405,977 |
| 15 | Chr5 | 80,425,292 | 80,543,565 | 118,274 |
| 16 | Chr5 | 80,543,566 | 89,331,805 | 8,788,240 |
| 17 | Chr5 | 89,331,806 | 89,610,127 | 278,322 |
| 18 | Chr5 | 89,610,128 | 115,213,462 | 25,603,335 |
| 19 | Chr5 | 115,213,463 | 119,187,471 | 3,974,009 |
| 20 | Chr5 | 119,187,472 | 181,472,713 | 62,285,242 |
mt_haps
10: ['14+', '15+', '16+', '17+', '18+', '19+', '20+']
11: ['14+', '15+', '16+', '16-', '17+', '18+', '19+', '19+', '20+']
wt_haps
['14+', '15+', '16+', '17+', '18+', '19+', '20+']
['14+', '15+', '16+', '17+', '18+', '19+', '20+']
alignments
['14+', '15+', '16+', '17+', '18+', '19+', '20+'] ['14+', '15+', '16+', '17+', '18+', '19+', '20+']
['14+', '15+', '16+', '16-', '17+', '18+', '19+', '19+', '20+'] ['14+', '15+', '16+', '-', '17+', '18+', '-', '19+', '20+']
1. dup(7)(p12.3p12.1): tandem duplication on Chr7: 46,579,906-52,168,858 (p12.3 - p12.1) (11, 'tandem_duplication', ['15.1.mt(23+).22+.23+'])
2. del(7)(q31.2q31.32): deletion on Chr7: 117,394,850-122,945,416 (q31.2 - q31.32) (13, 'deletion', ['15.3.wt(25+).24+.26+'])
| SV | rationale | gene name | gene omim |
|---|---|---|---|
| 1 | CN+1 | PKD1L1 | 609721 |
| 1 | CN+1 | DDC | 107930 |
| 2 | CN-1 | AASS | 605113 |
| 2 | CN-1 | FEZF1 | 613301 |
| seg index | chr | start | end | size |
|---|---|---|---|---|
| 22 | Chr7 | 10,488 | 46,574,870 | 46,564,383 |
| 23 | Chr7 | 46,579,906 | 52,168,858 | 5,588,953 |
| 24 | Chr7 | 52,170,419 | 117,386,987 | 65,216,569 |
| 25 | Chr7 | 117,394,850 | 122,945,416 | 5,550,567 |
| 26 | Chr7 | 122,952,146 | 159,334,983 | 36,382,838 |
mt_haps
14: ['22+', '23+', '24+', '25+', '26+']
15: ['22+', '23+', '23+', '24+', '26+']
wt_haps
['22+', '23+', '24+', '25+', '26+']
['22+', '23+', '24+', '25+', '26+']
alignments
['22+', '23+', '24+', '25+', '26+'] ['22+', '23+', '24+', '25+', '26+']
['22+', '23+', '23+', '24+', '-', '26+'] ['22+', '-', '23+', '24+', '25+', '26+']
1. ins-t(11;11)(p15.2;p14.3p13): balanced non-reciprocal translocation of Chr11: 26,045,623-32,287,779 (p14.3 - p13) into Chr11: 16061951(p15.2) (4, 'balanced_translocation_unassociated', ['21.1.mt(44+).37+.43+', '21.6b.wt(44+).42+.45+'])
2. ins-t(11;11)(p15.2;p15.1p14.3): balanced non-reciprocal translocation of Chr11: 21,329,925-26,045,622 (p15.1 - p14.3) into Chr11: 16061951(p15.2) (5, 'balanced_translocation_unassociated', ['21.2.mt(43+).44+.38+', '21.6a.wt(43+).42+.45+'])
3. right-dup-inv(11)(p15.3p15.2): right duplication inversion on Chr11: 11,973,235-15,880,728 (p15.3 - p15.2) (8, 'right_duplication_inversion', ['21.4.mt(40-).40+.41+'])
4. dup(11)(q12.1q12.2): tandem duplication on Chr11: 56,370,292-60,248,587 (q12.1 - q12.2) (12, 'tandem_duplication', ['21.8.mt(46+).45+.46+'])
| SV | rationale | gene name | gene omim |
|---|---|---|---|
| 3 | CN+1 | PTH | 168450 |
| 3 | CN+1 | FAR1 | 616107 |
| 3 | CN+1 | RRAS2 | 600098 |
| 3 | CN+1 | COPB1 | 600959 |
| 4 | CN+1 | CLP1 | 608757 |
| 4 | CN+1 | TMX2 | 616715 |
| 4 | CN+1 | CTNND1 | 601045 |
| 4 | CN+1 | FAM111A | 615292 |
| seg index | chr | start | end | size |
|---|---|---|---|---|
| 37 | Chr11 | 60,458 | 11,810,885 | 11,750,428 |
| 38 | Chr11 | 11,810,886 | 11,901,418 | 90,533 |
| 39 | Chr11 | 11,901,419 | 11,973,234 | 71,816 |
| 40 | Chr11 | 11,973,235 | 15,880,728 | 3,907,494 |
| 41 | Chr11 | 15,880,729 | 16,061,950 | 181,222 |
| 42 | Chr11 | 16,061,951 | 21,329,924 | 5,267,974 |
| 43 | Chr11 | 21,329,925 | 26,045,622 | 4,715,698 |
| 44 | Chr11 | 26,045,623 | 32,287,779 | 6,242,157 |
| 45 | Chr11 | 32,287,780 | 56,370,291 | 24,082,512 |
| 46 | Chr11 | 56,370,292 | 60,248,587 | 3,878,296 |
| 47 | Chr11 | 60,248,588 | 135,069,564 | 74,820,977 |
mt_haps
20: ['37+', '38+', '39+', '40+', '41+', '42+', '43+', '44+', '45+', '46+', '47+']
21: ['37+', '44+', '43+', '38+', '39+', '40+', '40-', '41+', '42+', '45+', '46+', '46+', '47+']
wt_haps
['37+', '38+', '39+', '40+', '41+', '42+', '43+', '44+', '45+', '46+', '47+']
['37+', '38+', '39+', '40+', '41+', '42+', '43+', '44+', '45+', '46+', '47+']
alignments
['37+', '38+', '39+', '40+', '41+', '42+', '43+', '44+', '45+', '46+', '47+'] ['37+', '38+', '39+', '40+', '41+', '42+', '43+', '44+', '45+', '46+', '47+']
['37+', '44+', '43+', '38+', '39+', '40+', '40-', '41+', '42+', '-', '-', '45+', '46+', '46+', '47+'] ['37+', '-', '-', '38+', '39+', '40+', '-', '41+', '42+', '43+', '44+', '45+', '-', '46+', '47+']
1. del(15)(q11.2q13.1): deletion on Chr15: 22,114,848-28,215,386 (q11.2 - q13.1) (14, 'deletion', ['29.1.wt(52+).51+.53+'])
2. left-dup-inv(15)(q14q21.1): left duplication inversion on Chr15: 36,267,982-45,876,375 (q14 - q21.1) (9, 'left_duplication_inversion', ['29.3.mt(55-).54+.55+'])
3. del(15)(q21.3q22.2): deletion on Chr15: 57,282,556-60,282,474 (q21.3 - q22.2) (15, 'deletion', ['29.5.wt(58+).57+.59+'])
| SV | rationale | gene name | gene omim |
|---|---|---|---|
| 1 | breakpoint proximal | HERC2 | 605837 |
| 3 | breakpoint proximal | TCF12 | 600480 |
| 1 | CN-1 | MAGEL2 | 605283 |
| 1 | CN-1 | UBE3A | 601623 |
| 1 | CN-1 | GABRB3 | 137192 |
| 1 | CN-1 | HERC2 | 605837 |
| 2 | CN+1 | MEIS2 | 601740 |
| 2 | CN+1 | SPRED1 | 609291 |
| 2 | CN+1 | BUB1B | 602860 |
| 2 | CN+1 | IVD | 607036 |
| 2 | CN+1 | CHST14 | 608429 |
| 2 | CN+1 | CCDC32 | 618941 |
| 2 | CN+1 | RAD51 | 179617 |
| 2 | CN+1 | ZFYVE19 | 619635 |
| 2 | CN+1 | DLL4 | 605185 |
| 2 | CN+1 | UBR1 | 605981 |
| 2 | CN+1 | TUBGCP4 | 609610 |
| 2 | CN+1 | FRMD5 | 616309 |
| 2 | CN+1 | SPG11 | 610844 |
| 2 | CN+1 | GATM | 602360 |
| 2 | CN+1 | BLOC1S6 | 604310 |
| 3 | CN-1 | TCF12 | 600480 |
| 3 | CN-1 | ALDH1A2 | 603687 |
| seg index | chr | start | end | size |
|---|---|---|---|---|
| 51 | Chr15 | 17,050,954 | 22,114,847 | 5,063,894 |
| 52 | Chr15 | 22,114,848 | 28,215,386 | 6,100,539 |
| 53 | Chr15 | 28,215,387 | 36,193,053 | 7,977,667 |
| 54 | Chr15 | 36,193,054 | 36,267,981 | 74,928 |
| 55 | Chr15 | 36,267,982 | 45,876,375 | 9,608,394 |
| 56 | Chr15 | 45,876,376 | 45,939,127 | 62,752 |
| 57 | Chr15 | 45,939,128 | 57,282,555 | 11,343,428 |
| 58 | Chr15 | 57,282,556 | 60,282,474 | 2,999,919 |
| 59 | Chr15 | 60,282,475 | 101,976,508 | 41,694,034 |
mt_haps
28: ['51+', '52+', '53+', '54+', '55+', '56+', '57+', '58+', '59+']
29: ['51+', '53+', '54+', '55-', '55+', '56+', '57+', '59+']
wt_haps
['51+', '52+', '53+', '54+', '55+', '56+', '57+', '58+', '59+']
['51+', '52+', '53+', '54+', '55+', '56+', '57+', '58+', '59+']
alignments
['51+', '52+', '53+', '54+', '55+', '56+', '57+', '58+', '59+'] ['51+', '52+', '53+', '54+', '55+', '56+', '57+', '58+', '59+']
['51+', '-', '53+', '54+', '55-', '55+', '56+', '57+', '-', '59+'] ['51+', '52+', '53+', '54+', '-', '55+', '56+', '57+', '58+', '59+']
1. del(21)(q21.1): deletion on Chr21: 15,046,745-20,949,614 (q21.1 - q21.1) (16, 'deletion', ['41.1.wt(68+).67+.69+'])
| seg index | chr | start | end | size |
|---|---|---|---|---|
| 67 | Chr21 | 5,010,515 | 15,046,744 | 10,036,230 |
| 68 | Chr21 | 15,046,745 | 20,949,614 | 5,902,870 |
| 69 | Chr21 | 20,949,615 | 46,697,229 | 25,747,615 |
mt_haps
40: ['67+', '68+', '69+']
41: ['67+', '69+']
wt_haps
['67+', '68+', '69+']
['67+', '68+', '69+']
alignments
['67+', '68+', '69+'] ['67+', '68+', '69+']
['67+', '-', '69+'] ['67+', '68+', '69+']
1. dup(1)(q21.1q21.2): tandem duplication on Chr1: 147,057,352-148,302,015 (q21.1 - q21.2) (9, 'tandem_duplication', ['1.1.mt(2+).1+.2+'])
| SV | rationale | gene name | gene omim |
|---|---|---|---|
| 1 | CN+1 | GJA8 | 600897 |
| seg index | chr | start | end | size |
|---|---|---|---|---|
| 1 | Chr1 | 14,454 | 147,057,351 | 147,042,898 |
| 2 | Chr1 | 147,057,352 | 148,302,015 | 1,244,664 |
| 3 | Chr1 | 148,302,016 | 248,943,332 | 100,641,317 |
mt_haps
0: ['1+', '2+', '3+']
1: ['1+', '2+', '2+', '3+']
wt_haps
['1+', '2+', '3+']
['1+', '2+', '3+']
alignments
['1+', '2+', '3+'] ['1+', '2+', '3+']
['1+', '2+', '2+', '3+'] ['1+', '-', '2+', '3+']
1. del(2)(p24.3): deletion on Chr2: 12,905,355-14,337,630 (p24.3 - p24.3) (15, 'deletion', ['3.1.wt(5+).4+.6+'])
2. dup(2)(p16.3p16.2): tandem duplication on Chr2: 52,097,251-52,835,880 (p16.3 - p16.2) (10, 'tandem_duplication', ['3.3.mt(7+).6+.7+'])
| seg index | chr | start | end | size |
|---|---|---|---|---|
| 4 | Chr2 | 15,925 | 12,905,354 | 12,889,430 |
| 5 | Chr2 | 12,905,355 | 14,337,630 | 1,432,276 |
| 6 | Chr2 | 14,337,631 | 52,097,250 | 37,759,620 |
| 7 | Chr2 | 52,097,251 | 52,835,880 | 738,630 |
| 8 | Chr2 | 52,835,881 | 87,052,278 | 34,216,398 |
| 9 | Chr2 | 87,052,279 | 87,717,319 | 665,041 |
| 10 | Chr2 | 87,717,320 | 242,181,356 | 154,464,037 |
mt_haps
2: ['4+', '5+', '6+', '7+', '8+', '9+', '10+']
3: ['4+', '6+', '7+', '7+', '8+', '9+', '10+']
wt_haps
['4+', '5+', '6+', '7+', '8+', '9+', '10+']
['4+', '5+', '6+', '7+', '8+', '9+', '10+']
alignments
['4+', '5+', '6+', '7+', '8+', '9+', '10+'] ['4+', '5+', '6+', '7+', '8+', '9+', '10+']
['4+', '-', '6+', '7+', '7+', '8+', '9+', '10+'] ['4+', '5+', '6+', '-', '7+', '8+', '9+', '10+']
1. ins-t(3;3)(p14.3;p14.3p14.3): balanced non-reciprocal translocation of Chr3: 58,401,101-58,453,602 (p14.3 - p14.3) into Chr3: 57594837(p14.3) (0, 'balanced_translocation_unassociated', ['4.1.mt(15+).14+.15+', '7.5.wt(15+).14+.16-'])
2. ins-t(6;6)(p25.3;q24.1q24.1): balanced non-reciprocal translocation of Chr6: 139,606,650-140,923,003 (q24.1 - q24.1) into Chr6: 0(p25.3) (1, 'balanced_translocation_unassociated', ['5.1.wt(25+).24+.26+', '7.1.mt(25+).11+.12+'])
3. right-dup-inv(3)(p14.3): right duplication inversion on Chr3: 55,886,654-57,585,230 (p14.3 - p14.3) (6, 'right_duplication_inversion', ['7.3.mt(13-).13+.14+'])
4. left-dup-inv(3)(p14.3p14.2): left duplication inversion on Chr3: 58,453,603-60,264,626 (p14.3 - p14.2) (7, 'left_duplication_inversion', ['7.6.mt(16-).14+.16+'])
5. dup(3)(p11.1): tandem duplication on Chr3: 88,532,600-89,230,241 (p11.1 - p11.1) (11, 'tandem_duplication', ['7.8.mt(18+).17+.18+'])
| SV | rationale | gene name | gene omim |
|---|---|---|---|
| 3 | CN+1 | HESX1 | 601802 |
| seg index | chr | start | end | size |
|---|---|---|---|---|
| 11 | Chr3 | 12,920 | 50,855,069 | 50,842,150 |
| 12 | Chr3 | 50,855,070 | 55,871,523 | 5,016,454 |
| 13 | Chr3 | 55,886,654 | 57,585,230 | 1,698,577 |
| 14 | Chr3 | 57,594,837 | 58,401,100 | 806,264 |
| 15 | Chr3 | 58,401,101 | 58,453,602 | 52,502 |
| 16 | Chr3 | 58,453,603 | 60,264,626 | 1,811,024 |
| 17 | Chr3 | 60,266,723 | 88,532,599 | 28,265,877 |
| 18 | Chr3 | 88,532,600 | 89,230,241 | 697,642 |
| 19 | Chr3 | 89,230,242 | 198,230,595 | 109,000,354 |
| 24 | Chr6 | 0 | 139,606,649 | 139,606,650 |
| 25 | Chr6 | 139,606,650 | 140,923,003 | 1,316,354 |
| 26 | Chr6 | 140,923,004 | 170,739,897 | 29,816,894 |
mt_haps
4: ['11+', '12+', '13+', '14+', '15+', '15+', '16+', '17+', '18+', '19+']
7: ['11+', '25+', '12+', '13+', '13-', '14+', '16-', '16+', '17+', '18+', '18+', '19+']
6: ['24+', '25+', '26+']
5: ['24+', '26+']
wt_haps
['11+', '12+', '13+', '14+', '15+', '16+', '17+', '18+', '19+']
['11+', '12+', '13+', '14+', '15+', '16+', '17+', '18+', '19+']
['24+', '25+', '26+']
['24+', '25+', '26+']
alignments
['11+', '12+', '13+', '14+', '15+', '15+', '16+', '17+', '18+', '19+'] ['11+', '12+', '13+', '14+', '-', '15+', '16+', '17+', '18+', '19+']
['11+', '25+', '12+', '13+', '13-', '14+', '-', '16-', '16+', '17+', '18+', '18+', '19+'] ['11+', '-', '12+', '13+', '-', '14+', '15+', '-', '16+', '17+', '-', '18+', '19+']
['24+', '25+', '26+'] ['24+', '25+', '26+']
['24+', '-', '26+'] ['24+', '25+', '26+']
1. inv(4)(q34.2): inversion on Chr4: 175,411,677-176,466,225 (q34.2 - q34.2) (3, 'inversion', ['9.1,2.(21+),wt(21+),mt(21-).20+.22+'])
| seg index | chr | start | end | size |
|---|---|---|---|---|
| 20 | Chr4 | 0 | 175,411,676 | 175,411,677 |
| 21 | Chr4 | 175,411,677 | 176,466,225 | 1,054,549 |
| 22 | Chr4 | 176,466,226 | 190,202,564 | 13,736,339 |
mt_haps
8: ['20+', '21+', '22+']
9: ['20+', '21-', '22+']
wt_haps
['20+', '21+', '22+']
['20+', '21+', '22+']
alignments
['20+', '21+', '22+'] ['20+', '21+', '22+']
['20+', '-', '21-', '22+'] ['20+', '21+', '-', '22+']
1. dup(8)(p11.23): tandem duplication on Chr8: 37,169,578-38,449,192 (p11.23 - p11.23) (12, 'tandem_duplication', ['15.1.mt(29+).28+.29+'])
| SV | rationale | gene name | gene omim |
|---|---|---|---|
| 1 | breakpoint proximal | FGFR1 | 136350 |
| 1 | CN+1 | ERLIN2 | 611605 |
| 1 | CN+1 | PLPBP | 604436 |
| 1 | CN+1 | STAR | 600617 |
| 1 | CN+1 | DDHD2 | 615003 |
| 1 | CN+1 | FGFR1 | 136350 |
| seg index | chr | start | end | size |
|---|---|---|---|---|
| 28 | Chr8 | 61,806 | 37,169,577 | 37,107,772 |
| 29 | Chr8 | 37,169,578 | 38,449,192 | 1,279,615 |
| 30 | Chr8 | 38,449,193 | 145,076,124 | 106,626,932 |
mt_haps
14: ['28+', '29+', '30+']
15: ['28+', '29+', '29+', '30+']
wt_haps
['28+', '29+', '30+']
['28+', '29+', '30+']
alignments
['28+', '29+', '30+'] ['28+', '29+', '30+']
['28+', '29+', '29+', '30+'] ['28+', '-', '29+', '30+']
1. inv(11)(q24.3q25): inversion on Chr11: 130,312,712-132,145,936 (q24.3 - q25) (4, 'inversion', ['21.1,2.(34+),wt(34+),mt(34-).33+.35+'])
| seg index | chr | start | end | size |
|---|---|---|---|---|
| 33 | Chr11 | 0 | 130,312,711 | 130,312,712 |
| 34 | Chr11 | 130,312,712 | 132,145,936 | 1,833,225 |
| 35 | Chr11 | 132,145,937 | 135,069,565 | 2,923,629 |
mt_haps
20: ['33+', '34+', '35+']
21: ['33+', '34-', '35+']
wt_haps
['33+', '34+', '35+']
['33+', '34+', '35+']
alignments
['33+', '34+', '35+'] ['33+', '34+', '35+']
['33+', '-', '34-', '35+'] ['33+', '34+', '-', '35+']
1. del(16)(q21): deletion on Chr16: 58,241,755-58,334,172 (q21 - q21) (16, 'deletion', ['31.1.wt(43+).42+.44+'])
2. right-dup-inv(16)(q21): right duplication inversion on Chr16: 58,241,755-59,355,469 (q21 - q21) (8, 'right_duplication_inversion', ['31.3.mt(44-,43-).44+.45+'])
| SV | rationale | gene name | gene omim |
|---|---|---|---|
| 2 | CN+1 | CNOT1 | 604917 |
| 2 | CN+1 | GOT2 | 138150 |
| seg index | chr | start | end | size |
|---|---|---|---|---|
| 42 | Chr16 | 14,135 | 58,241,754 | 58,227,620 |
| 43 | Chr16 | 58,241,755 | 58,334,172 | 92,418 |
| 44 | Chr16 | 58,334,173 | 59,355,469 | 1,021,297 |
| 45 | Chr16 | 59,366,996 | 90,224,750 | 30,857,755 |
mt_haps
30: ['42+', '43+', '44+', '45+']
31: ['42+', '44+', '44-', '43-', '45+']
wt_haps
['42+', '43+', '44+', '45+']
['42+', '43+', '44+', '45+']
alignments
['42+', '43+', '44+', '45+'] ['42+', '43+', '44+', '45+']
['42+', '-', '44+', '44-', '43-', '45+'] ['42+', '43+', '44+', '-', '-', '45+']
1. inv(18)(q12.1): inversion on Chr18: 31,097,443-31,948,791 (q12.1 - q12.1) (5, 'inversion', ['35.1,2.(48+),wt(48+),mt(48-).47+.49+'])
2. dup(18)(q21.31): tandem duplication on Chr18: 56,767,452-58,533,687 (q21.31 - q21.31) (13, 'tandem_duplication', ['35.4.mt(50+).49+.50+'])
| SV | rationale | gene name | gene omim |
|---|---|---|---|
| 2 | CN+1 | NARS1 | 108410 |
| 2 | CN+1 | ATP8B1 | 602397 |
| 2 | CN+1 | NEDD4L | 606384 |
| seg index | chr | start | end | size |
|---|---|---|---|---|
| 47 | Chr18 | 18,869 | 31,097,442 | 31,078,574 |
| 48 | Chr18 | 31,097,443 | 31,948,791 | 851,349 |
| 49 | Chr18 | 31,948,792 | 56,767,451 | 24,818,660 |
| 50 | Chr18 | 56,767,452 | 58,533,687 | 1,766,236 |
| 51 | Chr18 | 58,533,688 | 80,256,373 | 21,722,686 |
mt_haps
34: ['47+', '48+', '49+', '50+', '51+']
35: ['47+', '48-', '49+', '50+', '50+', '51+']
wt_haps
['47+', '48+', '49+', '50+', '51+']
['47+', '48+', '49+', '50+', '51+']
alignments
['47+', '48+', '49+', '50+', '51+'] ['47+', '48+', '49+', '50+', '51+']
['47+', '-', '48-', '49+', '50+', '50+', '51+'] ['47+', '48+', '-', '49+', '-', '50+', '51+']
1. ins-t(21;21)(q21.3;q21.3q21.3): balanced non-reciprocal translocation of Chr21: 27,528,222-27,682,460 (q21.3 - q21.3) into Chr21: 27040077(q21.3) (2, 'balanced_translocation_unassociated', ['40.1.mt(56+).55+.56+', '41.1.wt(56+).55+.55-'])
2. ins(21)(q21.3q21.3q21.3): duplicated-insertion of Chr21: 27,528,221-27,040,077 (q21.3 - q21.3) into Chr21: 27,040,077 (q21.3) (17, 'insertion', ['41.2.mt(55-).55+.57+'])
| seg index | chr | start | end | size |
|---|---|---|---|---|
| 54 | Chr21 | 5,010,515 | 27,038,647 | 22,028,133 |
| 55 | Chr21 | 27,040,077 | 27,528,221 | 488,145 |
| 56 | Chr21 | 27,528,222 | 27,682,460 | 154,239 |
| 57 | Chr21 | 27,682,461 | 46,697,229 | 19,014,769 |
mt_haps
40: ['54+', '55+', '56+', '56+', '57+']
41: ['54+', '55+', '55-', '57+']
wt_haps
['54+', '55+', '56+', '57+']
['54+', '55+', '56+', '57+']
alignments
['54+', '55+', '56+', '56+', '57+'] ['54+', '55+', '-', '56+', '57+']
['54+', '55+', '-', '55-', '57+'] ['54+', '55+', '56+', '-', '57+']
1. dup(X)(q27.3q28): tandem duplication on ChrX: 146,916,100-148,608,907 (q27.3 - q28) (14, 'tandem_duplication', ['45.1.mt(60+).59+.60+'])
| SV | rationale | gene name | gene omim |
|---|---|---|---|
| 1 | breakpoint proximal | AFF2 | 300806 |
| 1 | CN+1 | FMR1 | 309550 |
| 1 | CN+1 | AFF2 | 300806 |
| seg index | chr | start | end | size |
|---|---|---|---|---|
| 59 | ChrX | 11,555 | 146,916,099 | 146,904,545 |
| 60 | ChrX | 146,916,100 | 148,608,907 | 1,692,808 |
| 61 | ChrX | 148,608,908 | 156,025,611 | 7,416,704 |
mt_haps
44: ['59+', '60+', '61+']
45: ['59+', '60+', '60+', '61+']
wt_haps
['59+', '60+', '61+']
['59+', '60+', '61+']
alignments
['59+', '60+', '61+'] ['59+', '60+', '61+']
['59+', '60+', '60+', '61+'] ['59+', '-', '60+', '61+']
1. ins-t(1;1)(q25.1;q42.2q42.2): balanced non-reciprocal translocation of Chr1: 230,771,891-233,133,907 (q42.2 - q42.2) into Chr1: 176044007(q25.1) (0, 'balanced_translocation_unassociated', ['1.1.mt(3+).1+.2+', '1.3.wt(3+).2+.4+'])
| seg index | chr | start | end | size |
|---|---|---|---|---|
| 1 | Chr1 | 0 | 176,044,006 | 176,044,007 |
| 2 | Chr1 | 176,044,007 | 230,771,890 | 54,727,884 |
| 3 | Chr1 | 230,771,891 | 233,133,907 | 2,362,017 |
| 4 | Chr1 | 233,133,908 | 248,943,333 | 15,809,426 |
mt_haps
0: ['1+', '2+', '3+', '4+']
1: ['1+', '3+', '2+', '4+']
wt_haps
['1+', '2+', '3+', '4+']
['1+', '2+', '3+', '4+']
alignments
['1+', '2+', '3+', '4+'] ['1+', '2+', '3+', '4+']
['1+', '3+', '2+', '-', '4+'] ['1+', '-', '2+', '3+', '4+']
1. dup(2)(q36.3q37.1): tandem duplication on Chr2: 226,039,457-232,819,457 (q36.3 - q37.1) (11, 'tandem_duplication', ['3.1.mt(8+).7+.8+'])
2. right-dup-inv(2)(q37.1q37.3): right duplication inversion on Chr2: 232,819,458-242,181,357 (q37.1 - q37.3) (8, 'right_duplication_inversion', ['3.3.mt(9-).9+.q-ter'])
| SV | rationale | gene name | gene omim |
|---|---|---|---|
| 1 | CN+1 | COL4A4 | 120131 |
| 1 | CN+1 | COL4A3 | 120070 |
| 1 | CN+1 | MFF | 614785 |
| 1 | CN+1 | TM4SF20 | 615404 |
| 1 | CN+1 | SLC19A3 | 606152 |
| 1 | CN+1 | DAW1 | 620279 |
| 1 | CN+1 | TRIP12 | 604506 |
| 1 | CN+1 | ARMC9 | 617612 |
| 1 | CN+1 | DIS3L2 | 614184 |
| 1 | CN+1 | ECEL1 | 605896 |
| 1 | CN+1 | PRSS56 | 613858 |
| 1 | CN+1 | CHRNG | 100730 |
| 2 | CN+1 | UGT1A1 | 191740 |
| 2 | CN+1 | COL6A3 | 120250 |
| 2 | CN+1 | TWIST2 | 607556 |
| 2 | CN+1 | HDAC4 | 605314 |
| 2 | CN+1 | NDUFA10 | 603835 |
| 2 | CN+1 | CAPN10 | 605286 |
| 2 | CN+1 | KIF1A | 601255 |
| 2 | CN+1 | AGXT | 604285 |
| 2 | CN+1 | D2HGDH | 609186 |
| seg index | chr | start | end | size |
|---|---|---|---|---|
| 5 | Chr2 | 15,925 | 87,052,278 | 87,036,354 |
| 6 | Chr2 | 87,052,279 | 87,717,319 | 665,041 |
| 7 | Chr2 | 87,717,320 | 226,036,358 | 138,319,039 |
| 8 | Chr2 | 226,039,457 | 232,819,457 | 6,780,001 |
| 9 | Chr2 | 232,819,458 | 242,181,357 | 9,361,900 |
mt_haps
2: ['5+', '6+', '7+', '8+', '9+']
3: ['5+', '6+', '7+', '8+', '8+', '9+', '9-']
wt_haps
['5+', '6+', '7+', '8+', '9+']
['5+', '6+', '7+', '8+', '9+']
alignments
['5+', '6+', '7+', '8+', '9+'] ['5+', '6+', '7+', '8+', '9+']
['5+', '6+', '7+', '8+', '8+', '9+', '9-'] ['5+', '6+', '7+', '-', '8+', '9+', '-']
1. t(3;4)(q28;q31.21): balanced translocation between Chr3 and Chr4, between segments Chr3: 190,151,918-198,230,596 (q28 - q29) and Chr4: 143,225,855-190,202,563 (q31.21 - q35.2) (2, 'balanced_translocation_associated<4>', ['4.2.mt(23+).11+.q-ter', '6.3.wt(23+).22+.11+'])
2. ins-t(3;3)(q24;q24q28): balanced non-reciprocal translocation of Chr3: 147,909,504-190,029,108 (q24 - q28) into Chr3: 144143017(q24) (6, 'balanced_translocation_unassociated', ['4.1a.wt(12+).11+.23+', '6.4b.mt(12+).11+.14-'])
3. ins-t(3;3)(q24;q28q28): balanced non-reciprocal translocation of Chr3: 190,029,109-190,151,917 (q28 - q28) into Chr3: 144143017(q24) (1, 'balanced_translocation_unassociated', ['4.1b.wt(13+).11+.23+', '5.3.mt(13+).12+.13+'])
4. ins-t(3;3)(p26.3;q24q24): balanced non-reciprocal translocation of Chr3: 144,143,017-147,909,503 (q24 - q24) into Chr3: 12920(p26.3) (3, 'balanced_translocation_unassociated', ['5.1.wt(11+).10+.12+', '6.4a.mt(11+).22+.12+'])
5. ins-t(9;9)(q31.1;q31.3q34.3): balanced non-reciprocal translocation of Chr9: 111,309,306-138,334,463 (q31.3 - q34.3) into Chr9: 101872667(q31.1) (5, 'balanced_translocation_unassociated', ['7.2b.mt(49+).48+.49-', '7.9.wt(49+).48+.17+'])
6. right-dup-inv(4)(q21.1q22.1): right duplication inversion on Chr4: 77,986,654-87,200,297 (q21.1 - q22.1) (9, 'right_duplication_inversion', ['6.1.mt(20-).20+.21+'])
7. ins(4;Chr3)(q24;q29q28): duplicated-insertion of Chr3: 198,230,596-190,151,918 (q29 - q28) into Chr4: 147,909,504 (q24) (17, 'insertion', ['6.5.mt(14-).12+.14+'])
8. ins(9;Chr4)(pter;p16.3p15.31): duplicated-insertion of Chr4: 12,986-19,427,978 (p16.3 - p15.31) into Chr9: pter (pter) (18, 'insertion', ['7.0.mt(15+,16+,17+).p-ter.16+'])
9. ins(9;Chr4)(p15.33;p15.33p15.33): duplicated-insertion of Chr4: 14,745,749-14,942,587 (p15.33 - p15.33) into Chr9: 14,942,588 (p15.33) (19, 'insertion', ['7.1.mt(16+).17+.48+'])
10. ins(9)(p15.33q31.1q31.3): duplicated-insertion of Chr9: 101,872,667-111,309,305 (q31.1 - q31.3) into Chr9: 14,745,749 (p15.33) (25, 'insertion', ['7.2a.mt(48+).16+.49+'])
11. ins(9)(q31.3q34.3q31.3): duplicated-insertion of Chr9: 138,334,463-111,309,306 (q34.3 - q31.3) into Chr9: 111,309,306 (q31.3) (20, 'insertion', ['7.3.mt(49-).49+.47-'])
12. ins(9)(q34.3q31.1p21.3): duplicated-insertion of Chr9: 101,872,666-20,106,974 (q31.1 - p21.3) into Chr9: 138,334,463 (q34.3) (21, 'insertion', ['7.4.mt(47-,46-,45-,44-).49-.43+'])
13. ins(9)(p21.3p22.3p21.3): duplicated-insertion of Chr9: 16,349,658-20,106,973 (p22.3 - p21.3) into Chr9: 20,186,110 (p21.3) (22, 'insertion', ['7.5.mt(43+).44-.43-'])
14. ins(9)(p22.3p21.3p24.3): duplicated-insertion of Chr9: 20,106,973-356,406 (p21.3 - p24.3) into Chr9: 16,349,658 (p22.3) (23, 'insertion', ['7.6.mt(43-,42-,41-,40-).43+.40-'])
15. left-dup-inv(9)(p24.3p24.1): left duplication inversion on Chr9: 14,567-6,074,294 (p24.3 - p24.1) (10, 'left_duplication_inversion', ['7.7.mt(40-,39-).40-.39+'])
16. ins(9;Chr4)(q31.1;p15.33q35.2): duplicated-insertion of Chr4: 14,942,588-190,202,563 (p15.33 - q35.2) into Chr9: 101,872,667 (q31.1) (24, 'insertion', ['7.10.mt(17+,18+,19+,20+,21+,22+,23+).48+.q-ter'])
| SV | rationale | gene name | gene omim |
|---|---|---|---|
| 14 | breakpoint proximal | DOCK8 | 611432 |
| 6,16 | CN+2 | FRAS1 | 607830 |
| 6,16 | CN+2 | PRKG2 | 601591 |
| 6,16 | CN+2 | HNRNPD | 601324 |
| 6,16 | CN+2 | COQ2 | 609825 |
| 6,16 | CN+2 | WDFY3 | 617485 |
| 6,16 | CN+2 | MAPK10 | 602897 |
| 7 | CN+1 | FGF12 | 601513 |
| 7 | CN+1 | TFRC | 190010 |
| 7 | CN+1 | PCYT1A | 123695 |
| 7 | CN+1 | RNF168 | 612688 |
| 7 | CN+1 | NRROS | 615322 |
| 7 | CN+1 | RUBCN | 613516 |
| 8 | CN+1 | PIGG | 616918 |
| 8 | CN+1 | IDUA | 252800 |
| 8 | CN+1 | CTBP1 | 602618 |
| 8 | CN+1 | UVSSA | 614632 |
| 8 | CN+1 | FGFR3 | 134934 |
| 8 | CN+1 | LETM1 | 604407 |
| 8 | CN+1 | NSD2 | 602952 |
| 8 | CN+1 | SH3BP2 | 602104 |
| 8 | CN+1 | LRPAP1 | 104225 |
| 8 | CN+1 | MSX1 | 142983 |
| 8 | CN+1 | EVC2 | 607261 |
| 8 | CN+1 | EVC | 604831 |
| 8 | CN+1 | WFS1 | 606201 |
| 8 | CN+1 | HMX1 | 142992 |
| 8 | CN+1 | NKX3-2 | 602183 |
| 8,16 | CN+2 | CC2D2A | 612013 |
| 8,16 | CN+2 | TAPT1 | 612758 |
| 8,16 | CN+2 | QDPR | 612676 |
| 10 | CN+1 | FKTN | 607440 |
| 10 | CN+1 | ZNF462 | 617371 |
| 10 | CN+1 | FRRS1L | 604574 |
| 11 | CN+1 | SLC31A1 | 603085 |
| 11 | CN+1 | ALAD | 125270 |
| 11 | CN+1 | COL27A1 | 608461 |
| 11 | CN+1 | TRIM32 | 602290 |
| 11 | CN+1 | CDK5RAP2 | 608201 |
| 11 | CN+1 | RAB14 | 612673 |
| 11 | CN+1 | NDUFA8 | 603359 |
| 11 | CN+1 | RABGAP1 | 615882 |
| 11 | CN+1 | CRB2 | 609720 |
| 11 | CN+1 | LMX1B | 602575 |
| 11 | CN+1 | STXBP1 | 602926 |
| 11 | CN+1 | DNM1 | 602377 |
| 11 | CN+1 | GOLGA2 | 602580 |
| 11 | CN+1 | COQ4 | 612898 |
| 11 | CN+1 | SLC27A4 | 604194 |
| 11 | CN+1 | GLE1 | 603371 |
| 11 | CN+1 | SPTAN1 | 182810 |
| 11 | CN+1 | DYNC2I2 | 613363 |
| 11 | CN+1 | SET | 600960 |
| 11 | CN+1 | DOLK | 610746 |
| 11 | CN+1 | ASS1 | 603470 |
| 11 | CN+1 | PRDM12 | 616458 |
| 11 | CN+1 | EXOSC2 | 602238 |
| 11 | CN+1 | ABL1 | 189980 |
| 11 | CN+1 | LAMC3 | 604349 |
| 11 | CN+1 | NUP214 | 114350 |
| 11 | CN+1 | POMT1 | 607423 |
| 11 | CN+1 | MED27 | 605044 |
| 11 | CN+1 | NTNG2 | 618689 |
| 11 | CN+1 | TSC1 | 605284 |
| 11 | CN+1 | RALGDS | 601619 |
| 11 | CN+1 | SURF1 | 185620 |
| 11 | CN+1 | ADAMTSL2 | 612277 |
| 11 | CN+1 | WDR5 | 609012 |
| 11 | CN+1 | MRPS2 | 611971 |
| 11 | CN+1 | KCNT1 | 608167 |
| 11 | CN+1 | CAMSAP1 | 613774 |
| 11 | CN+1 | LHX3 | 600577 |
| 11 | CN+1 | INPP5E | 613037 |
| 11 | CN+1 | NOTCH1 | 190198 |
| 11 | CN+1 | RABL6 | 610615 |
| 11 | CN+1 | MAN1B1 | 604346 |
| 11 | CN+1 | GRIN1 | 138249 |
| 11 | CN+1 | EHMT1 | 607001 |
| 11 | CN+1 | CACNA1B | 601012 |
| 12 | CN+1 | PLAA | 603873 |
| 12 | CN+1 | IFT74 | 608040 |
| 12 | CN+1 | TEK | 600221 |
| 12 | CN+1 | RIGI | 609631 |
| 12 | CN+1 | APTX | 606350 |
| 12 | CN+1 | B4GALT1 | 137060 |
| 12 | CN+1 | NUDT2 | 602852 |
| 12 | CN+1 | GALT | 606999 |
| 12 | CN+1 | IL11RA | 600939 |
| 12 | CN+1 | VCP | 601023 |
| 12 | CN+1 | FANCG | 602956 |
| 12 | CN+1 | PIGO | 614730 |
| 12 | CN+1 | TPM2 | 190990 |
| 12 | CN+1 | GBA2 | 609471 |
| 12 | CN+1 | NPR2 | 108961 |
| 12 | CN+1 | GNE | 603824 |
| 12 | CN+1 | EXOSC3 | 606489 |
| 12 | CN+1 | SMC5 | 609386 |
| 12 | CN+1 | TRPM3 | 608961 |
| 12 | CN+1 | RORB | 601972 |
| 12 | CN+1 | GNA14 | 604397 |
| 12 | CN+1 | GNAQ | 600998 |
| 12 | CN+1 | PSAT1 | 610936 |
| 12 | CN+1 | HNRNPK | 600712 |
| 12 | CN+1 | RMI1 | 610404 |
| 12 | CN+1 | NTRK2 | 600456 |
| 12 | CN+1 | AGTPBP1 | 606830 |
| 12 | CN+1 | SECISBP2 | 607693 |
| 12 | CN+1 | AUH | 600529 |
| 12 | CN+1 | ROR2 | 602337 |
| 12 | CN+1 | IARS1 | 600709 |
| 12 | CN+1 | BICD2 | 609797 |
| 12 | CN+1 | FBP1 | 611570 |
| 12 | CN+1 | FANCC | 613899 |
| 12 | CN+1 | PTCH1 | 601309 |
| 12 | CN+1 | ERCC6L2 | 615667 |
| 12 | CN+1 | TDRD7 | 611258 |
| 12 | CN+1 | XPA | 611153 |
| 12 | CN+1 | FOXE1 | 602617 |
| 12 | CN+1 | NANS | 605202 |
| 12 | CN+1 | GABBR2 | 607340 |
| 12 | CN+1 | TGFBR1 | 190181 |
| 12 | CN+1 | ALG2 | 607905 |
| 13,14 | CN+2 | BNC2 | 608669 |
| 14,15 | CN+2 | DOCK8 | 611432 |
| 14,15 | CN+2 | KANK1 | 607704 |
| 14,15 | CN+2 | SMARCA2 | 600014 |
| 14,15 | CN+2 | VLDLR | 192977 |
| 14,15 | CN+2 | GLIS3 | 610192 |
| 14 | CN+1 | GLDC | 238300 |
| 14 | CN+1 | TYRP1 | 115501 |
| 14 | CN+1 | MPDZ | 603785 |
| 14 | CN+1 | NFIB | 600728 |
| 14 | CN+1 | FREM1 | 608944 |
| 16 | CN+1 | SEPSECS | 613009 |
| 16 | CN+1 | RBPJ | 147183 |
| 16 | CN+1 | WDR19 | 608151 |
| 16 | CN+1 | LIAS | 607031 |
| 16 | CN+1 | PHOX2B | 603851 |
| 16 | CN+1 | GABRG1 | 137166 |
| 16 | CN+1 | GABRA2 | 137140 |
| 16 | CN+1 | KIT | 164920 |
| 16 | CN+1 | SRD5A3 | 611715 |
| 16 | CN+1 | TMEM165 | 614726 |
| 16 | CN+1 | CEP135 | 611423 |
| 16 | CN+1 | REST | 600571 |
| 16 | CN+1 | IGFBP7 | 602867 |
| 16 | CN+1 | SLC4A4 | 603345 |
| 16 | CN+1 | ANKRD17 | 615929 |
| 16 | CN+1 | ODAPH | 614829 |
| 16 | CN+1 | NUP54 | 607607 |
| 16 | CN+1 | SHROOM3 | 604570 |
| 16 | CN+1 | DSPP | 125485 |
| 16 | CN+1 | DMP1 | 600980 |
| 16 | CN+1 | PIGY | 610662 |
| 16 | CN+1 | GRID2 | 602368 |
| 16 | CN+1 | BMPR1B | 603248 |
| 16 | CN+1 | TRMT10A | 616013 |
| 16 | CN+1 | PPP3CA | 114105 |
| 16 | CN+1 | SLC39A8 | 608732 |
| 16 | CN+1 | MANBA | 609489 |
| 16 | CN+1 | CISD2 | 611507 |
| 16 | CN+1 | TACR3 | 162332 |
| 16 | CN+1 | PPA2 | 609988 |
| 16 | CN+1 | TBCK | 616899 |
| 16 | CN+1 | AIMP1 | 603605 |
| 16 | CN+1 | CYP2U1 | 610670 |
| 16 | CN+1 | HADH | 601609 |
| 16 | CN+1 | LEF1 | 153245 |
| 16 | CN+1 | COL25A1 | 610004 |
| 16 | CN+1 | LRIT3 | 615004 |
| 16 | CN+1 | PITX2 | 601542 |
| 16 | CN+1 | LARP7 | 612026 |
| 16 | CN+1 | ANK2 | 106410 |
| 16 | CN+1 | PRSS12 | 606709 |
| 16 | CN+1 | SEC24D | 607186 |
| 16 | CN+1 | NDNF | 616506 |
| 16 | CN+1 | EXOSC9 | 606180 |
| 16 | CN+1 | CCNA2 | 123835 |
| 16 | CN+1 | BBS7 | 607590 |
| 16 | CN+1 | BLTP1 | 611565 |
| 16 | CN+1 | BBS12 | 610683 |
| 16 | CN+1 | SPRY1 | 602465 |
| 16 | CN+1 | FAT4 | 612411 |
| 16 | CN+1 | PLK4 | 605031 |
| 16 | CN+1 | MFSD8 | 611124 |
| 16 | CN+1 | NAA15 | 608000 |
| 16 | CN+1 | MMAA | 607481 |
| 16 | CN+1 | SLC10A7 | 611459 |
| 16 | CN+1 | EDNRA | 131243 |
| 16 | CN+1 | PRMT9 | 616125 |
| 16 | CN+1 | LRBA | 606453 |
| 16 | CN+1 | MAB21L2 | 604357 |
| 16 | CN+1 | FBXW7 | 606278 |
| 16 | CN+1 | LRAT | 604863 |
| 16 | CN+1 | GLRB | 138492 |
| 16 | CN+1 | GRIA2 | 138247 |
| 16 | CN+1 | ETFDH | 231675 |
| 16 | CN+1 | TLL1 | 606742 |
| 16 | CN+1 | NEK1 | 604588 |
| 16 | CN+1 | CLCN3 | 600580 |
| 16 | CN+1 | HPGD | 601688 |
| 16 | CN+1 | AGA | 613228 |
| 16 | CN+1 | TRAPPC11 | 614138 |
| 16 | CN+1 | SLC25A4 | 103220 |
| 16 | CN+1 | UFSP2 | 611482 |
| seg index | chr | start | end | size |
|---|---|---|---|---|
| 10 | Chr3 | 12,920 | 144,143,016 | 144,130,097 |
| 11 | Chr3 | 144,143,017 | 147,909,503 | 3,766,487 |
| 12 | Chr3 | 147,909,504 | 190,029,108 | 42,119,605 |
| 13 | Chr3 | 190,029,109 | 190,151,917 | 122,809 |
| 14 | Chr3 | 190,151,918 | 198,230,596 | 8,078,679 |
| 15 | Chr4 | 12,986 | 14,742,693 | 14,729,708 |
| 16 | Chr4 | 14,745,749 | 14,942,587 | 196,839 |
| 17 | Chr4 | 14,942,588 | 19,427,978 | 4,485,391 |
| 18 | Chr4 | 19,443,124 | 77,917,311 | 58,474,188 |
| 19 | Chr4 | 77,917,312 | 77,986,653 | 69,342 |
| 20 | Chr4 | 77,986,654 | 87,200,297 | 9,213,644 |
| 21 | Chr4 | 87,200,298 | 87,306,079 | 105,782 |
| 22 | Chr4 | 87,306,080 | 143,225,854 | 55,919,775 |
| 23 | Chr4 | 143,225,855 | 190,202,563 | 46,976,709 |
| 39 | Chr9 | 14,567 | 356,405 | 341,839 |
| 40 | Chr9 | 356,406 | 6,074,294 | 5,717,889 |
| 41 | Chr9 | 6,074,295 | 16,144,120 | 10,069,826 |
| 42 | Chr9 | 16,144,121 | 16,349,657 | 205,537 |
| 43 | Chr9 | 16,349,658 | 20,106,973 | 3,757,316 |
| 44 | Chr9 | 20,106,974 | 20,186,110 | 79,137 |
| 45 | Chr9 | 20,186,111 | 63,401,812 | 43,215,702 |
| 46 | Chr9 | 63,401,813 | 64,814,182 | 1,412,370 |
| 47 | Chr9 | 64,814,183 | 101,872,666 | 37,058,484 |
| 48 | Chr9 | 101,872,667 | 111,309,305 | 9,436,639 |
| 49 | Chr9 | 111,309,306 | 138,334,463 | 27,025,158 |
mt_haps
4: ['10+', '11+', '23+']
5: ['10+', '12+', '13+', '13+', '14+']
6: ['15+', '16+', '17+', '18+', '19+', '20+', '20-', '21+', '22+', '11+', '12+', '14-', '14+']
7: ['15+', '16+', '17+', '16+', '48+', '49+', '49-', '47-', '46-', '45-', '44-', '43+', '43-', '42-', '41-', '40-', '40-', '39-', '39+', '40+', '41+', '42+', '43+', '44+', '45+', '46+', '47+', '48+', '17+', '18+', '19+', '20+', '21+', '22+', '23+']
wt_haps
['10+', '11+', '12+', '13+', '14+']
['10+', '11+', '12+', '13+', '14+']
['15+', '16+', '17+', '18+', '19+', '20+', '21+', '22+', '23+']
['39+', '40+', '41+', '42+', '43+', '44+', '45+', '46+', '47+', '48+', '49+']
alignments
['10+', '11+', '-', '-', '-', '23+'] ['10+', '11+', '12+', '13+', '14+', '-']
['10+', '-', '12+', '13+', '13+', '14+'] ['10+', '11+', '12+', '-', '13+', '14+']
['15+', '16+', '17+', '18+', '19+', '20+', '20-', '21+', '22+', '-', '11+', '12+', '14-', '14+'] ['15+', '16+', '17+', '18+', '19+', '20+', '-', '21+', '22+', '23+', '-', '-', '-', '-']
['15+', '16+', '17+', '16+', '48+', '49+', '49-', '47-', '46-', '45-', '44-', '43+', '43-', '42-', '41-', '40-', '40-', '39-', '39+', '40+', '41+', '42+', '43+', '44+', '45+', '46+', '47+', '48+', '-', '17+', '18+', '19+', '20+', '21+', '22+', '23+'] ['-', '-', '-', '-', '-', '-', '-', '-', '-', '-', '-', '-', '-', '-', '-', '-', '-', '-', '39+', '40+', '41+', '42+', '43+', '44+', '45+', '46+', '47+', '48+', '49+', '-', '-', '-', '-', '-', '-', '-']
1. del(5)(p15.33p11): deletion on Chr5: 254,719-46,400,789 (p15.33 - p11) (14, 'deletion', ['9.1.wt(25+).24+.26+'])
2. del(5)(q11.1q35.3): deletion on Chr5: 49,709,239-181,301,991 (q11.1 - q35.3) (15, 'deletion', ['9.3.wt(27+,28+).26+.29+'])
| SV | rationale | gene name | gene omim |
|---|---|---|---|
| 1 | breakpoint proximal | SDHA | 600857 |
| 1 | CN-1 | SDHA | 600857 |
| 1 | CN-1 | TRIP13 | 604507 |
| 1 | CN-1 | TERT | 187270 |
| 1 | CN-1 | SLC6A3 | 126455 |
| 1 | CN-1 | NSUN2 | 610916 |
| 1 | CN-1 | MTRR | 602568 |
| 1 | CN-1 | CTNND2 | 604275 |
| 1 | CN-1 | DNAH5 | 603335 |
| 1 | CN-1 | TRIO | 601893 |
| 1 | CN-1 | OTULIN | 615712 |
| 1 | CN-1 | ANKH | 605145 |
| 1 | CN-1 | RETREG1 | 613114 |
| 1 | CN-1 | NPR3 | 108962 |
| 1 | CN-1 | TARS1 | 187790 |
| 1 | CN-1 | LMBRD2 | 619490 |
| 1 | CN-1 | NADK2 | 615787 |
| 1 | CN-1 | NIPBL | 608667 |
| 1 | CN-1 | CPLANE1 | 614571 |
| 1 | CN-1 | LIFR | 151443 |
| 1 | CN-1 | OXCT1 | 601424 |
| 1 | CN-1 | GHR | 600946 |
| 1 | CN-1 | FGF10 | 602115 |
| 1 | CN-1 | HCN1 | 602780 |
| 2 | CN-1 | MOCS2 | 603708 |
| 2 | CN-1 | NDUFS4 | 602694 |
| 2 | CN-1 | CCNO | 607752 |
| 2 | CN-1 | MAP3K1 | 600982 |
| 2 | CN-1 | PDE4D | 600129 |
| 2 | CN-1 | ERCC8 | 609412 |
| 2 | CN-1 | NDUFAF2 | 609653 |
| 2 | CN-1 | ZSWIM6 | 615951 |
| 2 | CN-1 | KIF2A | 602591 |
| 2 | CN-1 | CWC27 | 617170 |
| 2 | CN-1 | PIK3R1 | 171833 |
| 2 | CN-1 | OCLN | 602876 |
| 2 | CN-1 | MCCC2 | 609014 |
| 2 | CN-1 | HEXB | 606873 |
| 2 | CN-1 | CERT1 | 604677 |
| 2 | CN-1 | ARSB | 611542 |
| 2 | CN-1 | DHFR | 126060 |
| 2 | CN-1 | RPS23 | 603683 |
| 2 | CN-1 | XRCC4 | 194363 |
| 2 | CN-1 | RASA1 | 139150 |
| 2 | CN-1 | MEF2C | 600662 |
| 2 | CN-1 | NR2F1 | 132890 |
| 2 | CN-1 | SKIC3 | 614589 |
| 2 | CN-1 | CHD1 | 602118 |
| 2 | CN-1 | FEM1C | 608767 |
| 2 | CN-1 | HSD17B4 | 601860 |
| 2 | CN-1 | PRDM6 | 616982 |
| 2 | CN-1 | ALDH7A1 | 107323 |
| 2 | CN-1 | LMNB1 | 150340 |
| 2 | CN-1 | MEGF10 | 612453 |
| 2 | CN-1 | FBN2 | 612570 |
| 2 | CN-1 | HINT1 | 601314 |
| 2 | CN-1 | SLC22A5 | 603377 |
| 2 | CN-1 | RAD50 | 604040 |
| 2 | CN-1 | UQCRQ | 612080 |
| 2 | CN-1 | AFF4 | 604417 |
| 2 | CN-1 | PPP2CA | 176915 |
| 2 | CN-1 | PITX1 | 602149 |
| 2 | CN-1 | KDM3B | 609373 |
| 2 | CN-1 | SIL1 | 608005 |
| 2 | CN-1 | PURA | 600473 |
| 2 | CN-1 | HARS1 | 142810 |
| 2 | CN-1 | PCDHGC4 | 606305 |
| 2 | CN-1 | PCDH12 | 605622 |
| 2 | CN-1 | SLC26A2 | 606718 |
| 2 | CN-1 | CSF1R | 164770 |
| 2 | CN-1 | PDGFRB | 173410 |
| 2 | CN-1 | CAMK2A | 114078 |
| 2 | CN-1 | TCOF1 | 606847 |
| 2 | CN-1 | NDST1 | 600853 |
| 2 | CN-1 | GM2A | 613109 |
| 2 | CN-1 | SPARC | 182120 |
| 2 | CN-1 | GLRA1 | 138491 |
| 2 | CN-1 | GRIA1 | 138248 |
| 2 | CN-1 | GEMIN5 | 607005 |
| 2 | CN-1 | CYFIP2 | 606323 |
| 2 | CN-1 | THG1L | 618802 |
| 2 | CN-1 | GABRB2 | 600232 |
| 2 | CN-1 | GABRA1 | 137160 |
| 2 | CN-1 | GABRG2 | 137164 |
| 2 | CN-1 | RARS1 | 107820 |
| 2 | CN-1 | NPM1 | 164040 |
| 2 | CN-1 | FBXW11 | 605651 |
| 2 | CN-1 | SH3PXD2B | 613293 |
| 2 | CN-1 | NKX2-5 | 600584 |
| 2 | CN-1 | MSX2 | 123101 |
| 2 | CN-1 | NSD1 | 606681 |
| 2 | CN-1 | B4GALT7 | 604327 |
| 2 | CN-1 | PROP1 | 601538 |
| 2 | CN-1 | NHP2 | 606470 |
| 2 | CN-1 | GRM6 | 604096 |
| 2 | CN-1 | HNRNPH1 | 601035 |
| 2 | CN-1 | FLT4 | 136352 |
| seg index | chr | start | end | size |
|---|---|---|---|---|
| 24 | Chr5 | 19,315 | 254,718 | 235,404 |
| 25 | Chr5 | 254,719 | 46,400,789 | 46,146,071 |
| 26 | Chr5 | 46,400,790 | 49,709,238 | 3,308,449 |
| 27 | Chr5 | 49,709,239 | 70,612,428 | 20,903,190 |
| 28 | Chr5 | 70,612,429 | 181,301,991 | 110,689,563 |
| 29 | Chr5 | 181,301,992 | 181,472,713 | 170,722 |
mt_haps
8: ['24+', '25+', '26+', '27+', '28+', '29+']
9: ['24+', '26+', '29+']
wt_haps
['24+', '25+', '26+', '27+', '28+', '29+']
['24+', '25+', '26+', '27+', '28+', '29+']
alignments
['24+', '25+', '26+', '27+', '28+', '29+'] ['24+', '25+', '26+', '27+', '28+', '29+']
['24+', '-', '26+', '-', '-', '29+'] ['24+', '25+', '26+', '27+', '28+', '29+']
1. inv(6)(q15): inversion on Chr6: 88,086,189-90,985,092 (q15 - q15) (7, 'inversion', ['11.1,2.(31+),wt(31+),mt(31-).30+.32+'])
| seg index | chr | start | end | size |
|---|---|---|---|---|
| 30 | Chr6 | 0 | 88,086,188 | 88,086,189 |
| 31 | Chr6 | 88,086,189 | 90,985,092 | 2,898,904 |
| 32 | Chr6 | 90,985,093 | 170,739,897 | 79,754,805 |
mt_haps
10: ['30+', '31+', '32+']
11: ['30+', '31-', '32+']
wt_haps
['30+', '31+', '32+']
['30+', '31+', '32+']
alignments
['30+', '31+', '32+'] ['30+', '31+', '32+']
['30+', '-', '31-', '32+'] ['30+', '31+', '-', '32+']
1. dup(7)(q21.11q21.12): tandem duplication on Chr7: 81,851,429-88,398,274 (q21.11 - q21.12) (12, 'tandem_duplication', ['13.1.mt(35+).34+.35+'])
| SV | rationale | gene name | gene omim |
|---|---|---|---|
| 1 | CN+1 | CACNA2D1 | 114204 |
| 1 | CN+1 | SEMA3A | 603961 |
| 1 | CN+1 | ADAM22 | 603709 |
| seg index | chr | start | end | size |
|---|---|---|---|---|
| 33 | Chr7 | 10,488 | 81,767,674 | 81,757,187 |
| 34 | Chr7 | 81,767,675 | 81,851,428 | 83,754 |
| 35 | Chr7 | 81,851,429 | 88,398,274 | 6,546,846 |
| 36 | Chr7 | 88,398,275 | 88,552,922 | 154,648 |
| 37 | Chr7 | 88,552,923 | 159,334,983 | 70,782,061 |
mt_haps
12: ['33+', '34+', '35+', '36+', '37+']
13: ['33+', '34+', '35+', '35+', '36+', '37+']
wt_haps
['33+', '34+', '35+', '36+', '37+']
['33+', '34+', '35+', '36+', '37+']
alignments
['33+', '34+', '35+', '36+', '37+'] ['33+', '34+', '35+', '36+', '37+']
['33+', '34+', '35+', '35+', '36+', '37+'] ['33+', '34+', '-', '35+', '36+', '37+']
1. del(16)(q22.3q23.2): deletion on Chr16: 73,630,447-80,880,326 (q22.3 - q23.2) (16, 'deletion', ['29.1.wt(57+,58+).56+.59+'])
| SV | rationale | gene name | gene omim |
|---|---|---|---|
| 1 | breakpoint proximal | ZFHX3 | 104155 |
| 1 | CN-1 | ZFHX3 | 104155 |
| 1 | CN-1 | KARS1 | 601421 |
| 1 | CN-1 | ADAMTS18 | 607512 |
| 1 | CN-1 | WWOX | 605131 |
| 1 | CN-1 | MAF | 177075 |
| seg index | chr | start | end | size |
|---|---|---|---|---|
| 56 | Chr16 | 14,135 | 73,630,446 | 73,616,312 |
| 57 | Chr16 | 73,630,447 | 80,819,841 | 7,189,395 |
| 58 | Chr16 | 80,819,842 | 80,880,326 | 60,485 |
| 59 | Chr16 | 80,880,327 | 90,224,750 | 9,344,424 |
mt_haps
28: ['56+', '57+', '58+', '59+']
29: ['56+', '59+']
wt_haps
['56+', '57+', '58+', '59+']
['56+', '57+', '58+', '59+']
alignments
['56+', '57+', '58+', '59+'] ['56+', '57+', '58+', '59+']
['56+', '-', '-', '59+'] ['56+', '57+', '58+', '59+']
1. dup(20)(p12.3p12.2): tandem duplication on Chr20: 5,913,482-9,904,885 (p12.3 - p12.2) (13, 'tandem_duplication', ['37.1.mt(64+).63+.64+'])
| SV | rationale | gene name | gene omim |
|---|---|---|---|
| 1 | CN+1 | CRLS1 | 608188 |
| 1 | CN+1 | BMP2 | 112261 |
| 1 | CN+1 | PLCB1 | 607120 |
| 1 | CN+1 | PLCB4 | 600810 |
| seg index | chr | start | end | size |
|---|---|---|---|---|
| 63 | Chr20 | 70,157 | 5,913,481 | 5,843,325 |
| 64 | Chr20 | 5,913,482 | 9,904,885 | 3,991,404 |
| 65 | Chr20 | 9,904,886 | 64,333,717 | 54,428,832 |
mt_haps
36: ['63+', '64+', '65+']
37: ['63+', '64+', '64+', '65+']
wt_haps
['63+', '64+', '65+']
['63+', '64+', '65+']
alignments
['63+', '64+', '65+'] ['63+', '64+', '65+']
['63+', '64+', '64+', '65+'] ['63+', '-', '64+', '65+']
